Genetics of microphthalmos.
This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000150:complications; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006210:Hallermann's Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics; D008850:Microphthalmos / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome